Incidental Mutation 'IGL02448:Rc3h2'
ID 293595
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rc3h2
Ensembl Gene ENSMUSG00000075376
Gene Name ring finger and CCCH-type zinc finger domains 2
Synonyms D930043C02Rik, Mnab, 2900024N03Rik, Rnf164, 9430019J22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02448
Quality Score
Status
Chromosome 2
Chromosomal Location 37260081-37312915 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37279817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 471 (T471A)
Ref Sequence ENSEMBL: ENSMUSP00000108558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100143] [ENSMUST00000112934] [ENSMUST00000112936] [ENSMUST00000125619]
AlphaFold P0C090
Predicted Effect probably benign
Transcript: ENSMUST00000100143
AA Change: T471A

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000097721
Gene: ENSMUSG00000075376
AA Change: T471A

DomainStartEndE-ValueType
RING 14 53 2.87e-5 SMART
low complexity region 198 209 N/A INTRINSIC
ZnF_C3H1 410 437 1.58e-3 SMART
low complexity region 609 633 N/A INTRINSIC
low complexity region 668 688 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112934
AA Change: T471A

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000108556
Gene: ENSMUSG00000075376
AA Change: T471A

DomainStartEndE-ValueType
RING 14 53 2.87e-5 SMART
low complexity region 198 209 N/A INTRINSIC
ZnF_C3H1 410 437 1.58e-3 SMART
low complexity region 609 633 N/A INTRINSIC
low complexity region 668 688 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112936
AA Change: T471A

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000108558
Gene: ENSMUSG00000075376
AA Change: T471A

DomainStartEndE-ValueType
RING 14 53 2.87e-5 SMART
low complexity region 198 209 N/A INTRINSIC
ZnF_C3H1 410 437 1.58e-3 SMART
low complexity region 609 633 N/A INTRINSIC
low complexity region 668 688 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125619
SMART Domains Protein: ENSMUSP00000145082
Gene: ENSMUSG00000075376

DomainStartEndE-ValueType
RING 14 53 1.4e-7 SMART
low complexity region 198 209 N/A INTRINSIC
ZnF_C3H1 410 437 6.9e-6 SMART
low complexity region 455 466 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205124
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a knock-out allele are viable and healthy but show increased TNF production by macrophages in response to LPS. Homozygotes for a different knock-out allele show postnatal lethality, decreased body size and weight, and an immature lung phenotype with decreased alveolar expansion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl6 T A 9: 20,786,866 (GRCm39) I286F probably damaging Het
Arhgap5 A G 12: 52,609,123 (GRCm39) E1366G probably damaging Het
Blzf1 T A 1: 164,123,350 (GRCm39) I326F possibly damaging Het
Cc2d2a A C 5: 43,840,547 (GRCm39) probably benign Het
Cdc37 T C 9: 21,051,147 (GRCm39) E366G possibly damaging Het
Cdh17 T C 4: 11,784,680 (GRCm39) S279P probably benign Het
Cdh18 T C 15: 23,173,875 (GRCm39) S30P probably benign Het
Cep192 A G 18: 68,002,518 (GRCm39) T2238A probably benign Het
Cpped1 C T 16: 11,623,253 (GRCm39) E289K probably benign Het
Ctsq A T 13: 61,184,044 (GRCm39) Y293N probably damaging Het
Epb41l2 A G 10: 25,369,493 (GRCm39) N20S possibly damaging Het
Gcc2 T A 10: 58,128,393 (GRCm39) C1304* probably null Het
Hsd3b5 C T 3: 98,529,447 (GRCm39) G61E probably damaging Het
Igfals A T 17: 25,099,161 (GRCm39) N84I probably damaging Het
Irs2 A T 8: 11,057,862 (GRCm39) V190D probably benign Het
Kank1 T A 19: 25,388,739 (GRCm39) L804Q probably damaging Het
Kcnj2 G T 11: 110,963,108 (GRCm39) V167L probably benign Het
Kif20a T C 18: 34,761,507 (GRCm39) V300A possibly damaging Het
Kmt2d T C 15: 98,741,991 (GRCm39) probably benign Het
Moxd1 T C 10: 24,158,617 (GRCm39) F424L probably damaging Het
Mpeg1 A C 19: 12,439,973 (GRCm39) D477A probably benign Het
Mtmr10 A T 7: 63,957,898 (GRCm39) Y166F probably damaging Het
Muc5b T G 7: 141,422,226 (GRCm39) I4454S possibly damaging Het
Ntng1 G A 3: 109,841,875 (GRCm39) probably benign Het
Or52r1b T C 7: 102,691,604 (GRCm39) I306T possibly damaging Het
Or7e175 T A 9: 20,048,937 (GRCm39) L175* probably null Het
Pex11a A T 7: 79,387,208 (GRCm39) probably null Het
Plcg2 A G 8: 118,333,960 (GRCm39) D911G probably benign Het
Rif1 T A 2: 52,006,708 (GRCm39) L2214Q probably damaging Het
Rtel1 T A 2: 180,977,830 (GRCm39) S120T probably benign Het
Ryr1 A G 7: 28,804,491 (GRCm39) probably benign Het
Sh3yl1 G T 12: 30,989,666 (GRCm39) A129S probably damaging Het
Slc25a10 A G 11: 120,387,879 (GRCm39) T191A probably benign Het
Slc8b1 T C 5: 120,663,856 (GRCm39) S359P probably damaging Het
Srf T C 17: 46,866,349 (GRCm39) T136A possibly damaging Het
Stx1a G T 5: 135,052,473 (GRCm39) probably benign Het
Taf1d T A 9: 15,221,690 (GRCm39) C224* probably null Het
Tnik A G 3: 28,675,226 (GRCm39) S700G probably null Het
Ttn T C 2: 76,773,331 (GRCm39) H2357R probably benign Het
Ttn T C 2: 76,566,458 (GRCm39) E28145G probably damaging Het
Ush1c C A 7: 45,858,561 (GRCm39) V576F possibly damaging Het
Xpc T C 6: 91,492,726 (GRCm39) E19G probably benign Het
Zdhhc25 G A 15: 88,485,045 (GRCm39) V127M probably damaging Het
Other mutations in Rc3h2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Rc3h2 APN 2 37,279,759 (GRCm39) missense possibly damaging 0.59
IGL00944:Rc3h2 APN 2 37,288,250 (GRCm39) splice site probably benign
IGL01065:Rc3h2 APN 2 37,267,856 (GRCm39) splice site probably benign
IGL01966:Rc3h2 APN 2 37,272,789 (GRCm39) splice site probably benign
IGL02123:Rc3h2 APN 2 37,288,265 (GRCm39) missense probably damaging 1.00
IGL02174:Rc3h2 APN 2 37,301,237 (GRCm39) missense probably benign 0.11
IGL02539:Rc3h2 APN 2 37,279,727 (GRCm39) missense probably benign 0.09
IGL02698:Rc3h2 APN 2 37,295,312 (GRCm39) missense probably damaging 0.99
IGL02731:Rc3h2 APN 2 37,272,823 (GRCm39) missense probably benign 0.00
IGL02958:Rc3h2 APN 2 37,304,712 (GRCm39) missense probably damaging 1.00
IGL02959:Rc3h2 APN 2 37,295,366 (GRCm39) missense probably damaging 1.00
PIT4468001:Rc3h2 UTSW 2 37,289,651 (GRCm39) missense probably damaging 1.00
R0309:Rc3h2 UTSW 2 37,269,020 (GRCm39) splice site probably benign
R0488:Rc3h2 UTSW 2 37,279,600 (GRCm39) missense probably damaging 0.99
R0506:Rc3h2 UTSW 2 37,266,671 (GRCm39) critical splice donor site probably null
R0612:Rc3h2 UTSW 2 37,301,227 (GRCm39) missense possibly damaging 0.77
R0628:Rc3h2 UTSW 2 37,272,064 (GRCm39) splice site probably benign
R0647:Rc3h2 UTSW 2 37,299,542 (GRCm39) missense probably damaging 1.00
R0680:Rc3h2 UTSW 2 37,289,847 (GRCm39) missense probably damaging 0.97
R0738:Rc3h2 UTSW 2 37,295,386 (GRCm39) missense probably damaging 1.00
R2005:Rc3h2 UTSW 2 37,279,765 (GRCm39) nonsense probably null
R2105:Rc3h2 UTSW 2 37,289,636 (GRCm39) missense possibly damaging 0.89
R2133:Rc3h2 UTSW 2 37,268,928 (GRCm39) missense probably benign 0.12
R2373:Rc3h2 UTSW 2 37,269,013 (GRCm39) missense possibly damaging 0.94
R2414:Rc3h2 UTSW 2 37,289,831 (GRCm39) critical splice donor site probably null
R2850:Rc3h2 UTSW 2 37,267,427 (GRCm39) missense probably benign
R2913:Rc3h2 UTSW 2 37,268,971 (GRCm39) missense possibly damaging 0.89
R2932:Rc3h2 UTSW 2 37,268,371 (GRCm39) missense probably benign 0.10
R4441:Rc3h2 UTSW 2 37,304,526 (GRCm39) critical splice donor site probably null
R4932:Rc3h2 UTSW 2 37,279,844 (GRCm39) missense possibly damaging 0.77
R5114:Rc3h2 UTSW 2 37,288,373 (GRCm39) splice site probably null
R5169:Rc3h2 UTSW 2 37,295,324 (GRCm39) missense probably damaging 1.00
R5360:Rc3h2 UTSW 2 37,279,867 (GRCm39) missense possibly damaging 0.59
R5477:Rc3h2 UTSW 2 37,289,642 (GRCm39) missense possibly damaging 0.94
R5553:Rc3h2 UTSW 2 37,288,323 (GRCm39) nonsense probably null
R5776:Rc3h2 UTSW 2 37,268,325 (GRCm39) missense possibly damaging 0.59
R5842:Rc3h2 UTSW 2 37,268,383 (GRCm39) missense possibly damaging 0.77
R5935:Rc3h2 UTSW 2 37,304,745 (GRCm39) frame shift probably null
R6060:Rc3h2 UTSW 2 37,289,612 (GRCm39) missense possibly damaging 0.77
R6112:Rc3h2 UTSW 2 37,268,899 (GRCm39) missense possibly damaging 0.59
R6172:Rc3h2 UTSW 2 37,304,745 (GRCm39) frame shift probably null
R6173:Rc3h2 UTSW 2 37,304,745 (GRCm39) frame shift probably null
R6177:Rc3h2 UTSW 2 37,279,658 (GRCm39) missense probably benign 0.02
R6455:Rc3h2 UTSW 2 37,299,482 (GRCm39) missense probably damaging 1.00
R6457:Rc3h2 UTSW 2 37,301,151 (GRCm39) critical splice donor site probably null
R6467:Rc3h2 UTSW 2 37,272,028 (GRCm39) missense probably damaging 0.97
R6647:Rc3h2 UTSW 2 37,272,956 (GRCm39) nonsense probably null
R6694:Rc3h2 UTSW 2 37,290,555 (GRCm39) missense probably damaging 1.00
R6695:Rc3h2 UTSW 2 37,304,673 (GRCm39) missense possibly damaging 0.88
R7054:Rc3h2 UTSW 2 37,265,258 (GRCm39) missense probably benign 0.07
R7159:Rc3h2 UTSW 2 37,299,659 (GRCm39) missense probably benign 0.39
R7162:Rc3h2 UTSW 2 37,299,617 (GRCm39) missense possibly damaging 0.59
R7640:Rc3h2 UTSW 2 37,267,861 (GRCm39) critical splice donor site probably null
R7676:Rc3h2 UTSW 2 37,295,344 (GRCm39) missense possibly damaging 0.95
R8209:Rc3h2 UTSW 2 37,267,001 (GRCm39) missense possibly damaging 0.77
R8226:Rc3h2 UTSW 2 37,267,001 (GRCm39) missense possibly damaging 0.77
R8324:Rc3h2 UTSW 2 37,290,738 (GRCm39) missense possibly damaging 0.77
R8528:Rc3h2 UTSW 2 37,272,811 (GRCm39) missense probably benign 0.05
R8836:Rc3h2 UTSW 2 37,267,941 (GRCm39) missense possibly damaging 0.59
R8957:Rc3h2 UTSW 2 37,289,660 (GRCm39) missense possibly damaging 0.59
R9053:Rc3h2 UTSW 2 37,289,628 (GRCm39) missense possibly damaging 0.95
R9131:Rc3h2 UTSW 2 37,304,702 (GRCm39) missense possibly damaging 0.94
R9178:Rc3h2 UTSW 2 37,295,264 (GRCm39) missense possibly damaging 0.77
R9437:Rc3h2 UTSW 2 37,272,841 (GRCm39) missense possibly damaging 0.94
X0013:Rc3h2 UTSW 2 37,279,798 (GRCm39) missense possibly damaging 0.60
Z1187:Rc3h2 UTSW 2 37,289,612 (GRCm39) missense possibly damaging 0.77
Z1188:Rc3h2 UTSW 2 37,289,612 (GRCm39) missense possibly damaging 0.77
Z1189:Rc3h2 UTSW 2 37,299,568 (GRCm39) missense possibly damaging 0.94
Z1192:Rc3h2 UTSW 2 37,299,568 (GRCm39) missense possibly damaging 0.94
Z1192:Rc3h2 UTSW 2 37,289,612 (GRCm39) missense possibly damaging 0.77
Posted On 2015-04-16